neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome Disease Ontology Browser

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Disease Ontology Browser

neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome (DOID:0081396)
Alliance: disease page
Synonyms: PHRINL syndrome
Alt IDs: OMIM:618810, ORDO:615983
Definition: A syndrome that is characterized in infants showing respiratory insufficiency and almost no spontaneous movement at birth, usually requiring mechanical ventilation and admission to the neonatal intensive care unit and that has_material_basis_in compound heterozygous mutation in the ATAD3A gene on chromosome 1p36.33.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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